Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations.

Journal article

Patients with multiple (5-100) colorectal adenomas (MCRAs) often have no germline mutation in known predisposition genes, but probably have a genetic origin. We collected a set of 25 MCRA patients with no detectable germline mutation in APC, MYH/MUTYH or the mismatch repair genes. Extracolonic tumours were absent in these cases. No vertical transmission of the MCRA phenotype was found. Based on the precedent of MYH-associated polyposis (MAP), we searched for a mutational signature in 241 aden...

Expand abstract

Authors: Thirlwell, C; Howarth, K; Segditsas, S; Guerra, G; Thomas, H

• Publication status: Published
• Journal: British journal of cancer
• Volume: 96
• Issue: 11
• Pages: 1729-1734
• Publication date: 2007-06-01
• DOI: 10.1038/sj.bjc.6603789
• EISSN: 1532-1827
• ISSN: 0007-0920
• Language: English
• Keywords: Germ-Line Mutation; Loss of Heterozygosity; Gene Expression Regulation, Neoplastic; DNA Glycosylases; Colorectal Neoplasms; Genetic Predisposition to Disease; Adenomatous Polyposis Coli; Genes, APC; Aged; beta Catenin; Adenoma; Middle Aged; Gene Frequency; Humans; Adult